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Genetic and Rare Diseases Information Center (GARD)

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Branchiootorenal syndrome


Other Names for this Disease

  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
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Your Question

My daughter was diagnosed with branchiootorenal syndrome a few years ago, and her kidneys were checked and appeared to be normal. The nephrologist recommended that we keep an eye on them and check them periodically. Is there any data that would suggest that kidney problems could occur or show up later?

Our Answer

We have identified the following information that we hope you find helpful. If you still have questions, please contact us.

Is it possible for kidney problems to develop later on in individuals with branchiootorenal syndrome?

It has been reported that branchiootorenal (BOR) syndrome might be the cause of adult-onset renal failure.[1] One study reported a case of adult-onset renal failure in a 44-year-old man previously believed to have Alport's syndrome.[2] In another study involving nine family groups with BOR syndrome, previously unrecognized renal impairments were diagnosed in more than one family. The findings included vesicoureteral reflux, and only slight elevation of plasma creatinine levels, first degree of chronic renal failure. This study also noted that a high incidence of urological anomalies have been shown by intravenous urography (also known as intravenous pyelography) studies performed on individuals with BOR previously considered to be normal.[1]

Some genetic mutations that cause branchiootorenal (BOR) syndrome disrupt interactions that are necessary for the activation of certain genes during embryonic development,[3] and therefore many of the renal anomalies seen in BOR syndrome are due to abnormal development and formation, and may be evident before or shortly after birth. However, there can be a lot of variability in the presence, severity, and type of renal abnormality from right side to left side in an affected individual and also among individuals in the same family. Although renal anomalies are common in BOR syndrome, the prevalence is difficult to determine because not all affected individuals undergo thorough renal testing including tests such as intravenous pyelography or renal ultrasonography.[4]
Last updated: 3/1/2011

References
Other Names for this Disease
  • BOR syndrome
  • Branchio oto renal syndrome
  • Branchiootorenal dysplasia
  • Melnick-Fraser syndrome
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.